Variant report

Variant	rs5998072
Chromosome Location	chr22:32048374-32048375
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:12)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:12 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	22:32043914-32050710..22:32860159-32865649	K562	blood:
2	22:32043914-32050710..22:32802848-32805157	GM12878	blood:
3	chr22:32045934..32049849-chr22:32055772..32058476,7	MCF-7	breast:
4	chr22:32025444..32028093-chr22:32046335..32048524,2	MCF-7	breast:
5	22:32043914-32050710..22:32338420-32342898	K562	blood:
6	chr22:32044261..32046374-chr22:32048102..32050237,2	K562	blood:
7	22:32043914-32050710..22:32764253-32784733	K562	blood:
8	chr22:32047013..32049152-chr22:32054877..32056395,2	K562	blood:
9	22:31864703-31891033..22:32043914-32050710	GM12878	blood:
10	22:32043914-32050710..22:32342898-32343477	GM12878	blood:
11	chr22:32043853..32046327-chr22:32047521..32049441,2	MCF-7	breast:
12	22:32043914-32050710..22:32264718-32278135	K562	blood:

No data

Variant related genes	Relation type
ENSG00000241878	Chromatin interaction
ENSG00000184708	Chromatin interaction
ENSG00000184459	Chromatin interaction
ENSG00000128254	Chromatin interaction
ENSG00000232218	Chromatin interaction
ENSG00000230736	Chromatin interaction
ENSG00000100150	Chromatin interaction
ENSG00000205853	Chromatin interaction
ENSG00000243519	Chromatin interaction
ENSG00000100220	Chromatin interaction
ENSG00000198089	Chromatin interaction
ENSG00000128245	Chromatin interaction
ENSG00000241954	Chromatin interaction
ENSG00000199248	Chromatin interaction

Extended variants
information (count: 20 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs10154390	0.82[AFR][1000 genomes];0.89[EUR][1000 genomes]
rs12165432	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs131225	0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs131233	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs131244	0.82[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs131245	0.82[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs131250	0.88[ASN][1000 genomes]
rs131253	0.88[ASN][1000 genomes]
rs140078	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs140081	0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs28528942	0.82[ASN][1000 genomes]
rs3804087	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs5994420	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs5994427	0.88[ASN][1000 genomes]
rs5998086	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7289075	0.80[AMR][1000 genomes]
rs760908	0.86[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs9621327	0.87[ASN][1000 genomes]
rs9956	0.80[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:1 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2830290	chr22:32011225-32057964	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	33 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:116 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:32034400-32056400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr22:32036400-32050000	Weak transcription	Esophagus	oesophagus
3	chr22:32036400-32056400	Weak transcription	Colonic Mucosa	Colon
4	chr22:32037600-32048400	Weak transcription	Skeletal Muscle Male	skeletal muscle
5	chr22:32037600-32050000	Weak transcription	Psoas Muscle	Psoas
6	chr22:32041400-32056400	Weak transcription	Ovary	ovary
7	chr22:32041600-32057400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr22:32042800-32057000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
9	chr22:32043000-32057000	Weak transcription	H9 Cell Line	embryonic stem cell
10	chr22:32043400-32049200	Weak transcription	K562	blood
11	chr22:32043800-32056600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
12	chr22:32044000-32056200	Weak transcription	Fetal Heart	heart
13	chr22:32044000-32056800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
14	chr22:32044200-32049200	Weak transcription	Stomach Mucosa	stomach
15	chr22:32044200-32049400	Weak transcription	Brain Substantia Nigra	brain
16	chr22:32044200-32050000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
17	chr22:32044200-32056400	Weak transcription	Brain Cingulate Gyrus	brain
18	chr22:32044200-32056400	Weak transcription	Fetal Brain Male	brain
19	chr22:32044200-32057000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
20	chr22:32044200-32057000	Weak transcription	Fetal Kidney	kidney
21	chr22:32044400-32049200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
22	chr22:32044400-32050400	Weak transcription	Spleen	Spleen
23	chr22:32044400-32056400	Weak transcription	Brain Inferior Temporal Lobe	brain
24	chr22:32044400-32056400	Weak transcription	Lung	lung
25	chr22:32044400-32057000	Weak transcription	HSMMtube	muscle
26	chr22:32044600-32056600	Weak transcription	HUVEC	blood vessel
27	chr22:32045000-32056400	Weak transcription	Brain Hippocampus Middle	brain
28	chr22:32045000-32057200	Weak transcription	Thymus	Thymus
29	chr22:32045200-32050000	Weak transcription	Gastric	stomach
30	chr22:32045200-32054000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
31	chr22:32045200-32056400	Weak transcription	Cortex derived primary cultured neurospheres	brain
32	chr22:32045200-32057000	Weak transcription	Colon Smooth Muscle	Colon
33	chr22:32045200-32057200	Weak transcription	Aorta	Aorta
34	chr22:32045400-32050800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
35	chr22:32045400-32056400	Weak transcription	Brain Germinal Matrix	brain
36	chr22:32045400-32056400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
37	chr22:32045400-32056600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
38	chr22:32045400-32057000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
39	chr22:32045400-32057000	Weak transcription	Fetal Lung	lung
40	chr22:32045600-32057000	Weak transcription	Duodenum Smooth Muscle	Duodenum
41	chr22:32046000-32048400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
42	chr22:32046000-32049200	Weak transcription	Brain Anterior Caudate	brain
43	chr22:32046000-32055800	Weak transcription	Dnd41	blood
44	chr22:32046000-32056400	Weak transcription	Rectal Smooth Muscle	rectum
45	chr22:32046000-32056600	Weak transcription	Primary B cells from cord blood	blood
46	chr22:32046000-32057000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
47	chr22:32046000-32057200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
48	chr22:32046200-32049200	Weak transcription	Brain Angular Gyrus	brain
49	chr22:32046200-32049600	Weak transcription	Pancreas	Pancrea
50	chr22:32046200-32050000	Weak transcription	Sigmoid Colon	Sigmoid Colon

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